MSTN1_HUMAN
ID MSTN1_HUMAN Reviewed; 82 AA.
AC Q8IVN3;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Musculoskeletal embryonic nuclear protein 1;
GN Name=MUSTN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RA Ievolella C., Zara I., Millino C., Faulkner G., Lanfranchi G.;
RT "Full length sequencing of some human and murine muscular transcripts
RT (Telethon Italy project B41).";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May be involved in the development and regeneration of the
CC musculoskeletal system. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the MUSTANG family. {ECO:0000305}.
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DR EMBL; AJ276556; CAC81756.1; -; mRNA.
DR EMBL; AC099667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC130550; AAI30551.1; -; mRNA.
DR EMBL; BC130552; AAI30553.1; -; mRNA.
DR CCDS; CCDS46846.1; -.
DR RefSeq; NP_995325.3; NM_205853.3.
DR AlphaFoldDB; Q8IVN3; -.
DR SMR; Q8IVN3; -.
DR BioGRID; 132988; 13.
DR STRING; 9606.ENSP00000410910; -.
DR iPTMnet; Q8IVN3; -.
DR PhosphoSitePlus; Q8IVN3; -.
DR BioMuta; MUSTN1; -.
DR jPOST; Q8IVN3; -.
DR MassIVE; Q8IVN3; -.
DR PaxDb; Q8IVN3; -.
DR PeptideAtlas; Q8IVN3; -.
DR PRIDE; Q8IVN3; -.
DR ProteomicsDB; 70747; -.
DR Antibodypedia; 78014; 2 antibodies from 2 providers.
DR DNASU; 389125; -.
DR Ensembl; ENST00000446157.3; ENSP00000410910.2; ENSG00000272573.6.
DR GeneID; 389125; -.
DR KEGG; hsa:389125; -.
DR MANE-Select; ENST00000446157.3; ENSP00000410910.2; NM_205853.4; NP_995325.4.
DR UCSC; uc003dga.5; human.
DR CTD; 389125; -.
DR DisGeNET; 389125; -.
DR GeneCards; MUSTN1; -.
DR HGNC; HGNC:22144; MUSTN1.
DR HPA; ENSG00000272573; Tissue enriched (skeletal).
DR neXtProt; NX_Q8IVN3; -.
DR OpenTargets; ENSG00000272573; -.
DR PharmGKB; PA134991411; -.
DR VEuPathDB; HostDB:ENSG00000272573; -.
DR eggNOG; ENOG502S75P; Eukaryota.
DR GeneTree; ENSGT00940000153920; -.
DR HOGENOM; CLU_193377_0_0_1; -.
DR InParanoid; Q8IVN3; -.
DR OMA; YEVMAEC; -.
DR PhylomeDB; Q8IVN3; -.
DR TreeFam; TF330732; -.
DR PathwayCommons; Q8IVN3; -.
DR SignaLink; Q8IVN3; -.
DR BioGRID-ORCS; 389125; 12 hits in 1033 CRISPR screens.
DR GenomeRNAi; 389125; -.
DR Pharos; Q8IVN3; Tdark.
DR PRO; PR:Q8IVN3; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IVN3; protein.
DR Bgee; ENSG00000272573; Expressed in popliteal artery and 96 other tissues.
DR ExpressionAtlas; Q8IVN3; baseline and differential.
DR Genevisible; Q8IVN3; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0002062; P:chondrocyte differentiation; IEA:InterPro.
DR GO; GO:0035988; P:chondrocyte proliferation; IEA:InterPro.
DR GO; GO:0032332; P:positive regulation of chondrocyte differentiation; IEA:Ensembl.
DR GO; GO:1902732; P:positive regulation of chondrocyte proliferation; IEA:Ensembl.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:1902730; P:positive regulation of proteoglycan biosynthetic process; IEA:Ensembl.
DR GO; GO:0042246; P:tissue regeneration; IEA:InterPro.
DR InterPro; IPR031394; MUSTN1.
DR Pfam; PF15682; Mustang; 1.
PE 3: Inferred from homology;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..82
FT /note="Musculoskeletal embryonic nuclear protein 1"
FT /id="PRO_0000299447"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 49..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 10..18
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT COMPBIAS 12..28
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80XX4"
FT CONFLICT 20
FT /note="D -> E (in Ref. 1; CAC81756 and 3; AAI30551/
FT AAI30553)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 82 AA; 8911 MW; 29FB236077227DC8 CRC64;
MSQAGAQEAP IKKKRPPVKD EDLKGARGNL TKNQEIKSKT YQVMRECEQA GSAAPSVFSR
TRTGTETVFE KPKAGPTKSV FG
